AREAS OF RESEARCH

Finding treatments and a cure for FSHD is going to need research from all areas from basic science to clinical trials. FSHD Global Research Foundation is committed to funding all types of research to help drive discoveries that may lead to effective treatments for people with FSHD.

A cure for FSHD

Research projects that are focused on developing treatments to treat the underlying cause of FSHD progression.

Muscle Wellness

Research projects that are focused on developing treatments to improve musculoskeletal health, strength and well being.

Muscle Technology and Innovation

Research projects that are focused on developing technologies to improve muscle movement and replace or repair damaged tissues.

PILLARS

Finding treatments and a cure for FSHD is going to need research from all areas from basic science to clinical trials. FSHD Global Research Foundation is committed to funding all types of research to help drive discoveries that may lead to effective treatments for people with FSHD.

A cure for FSHD

Grant 2
​Derivation of human embryonic stem cells to aid medical research in FSHD

Grant 3
​Biomarkers in FSHD, a metabolome study in blood, urine and muscle

Grant 4
​Comparing the Dnasel­Hypersensitive Chromatin Landscape at 4q35 of FSHD and Control Cells

Grant 5
Defining the mechanism controlling muscle­specific gene expression in FSHD

Grant 6
Deciphering the long­distance interactions of the D4Z4 array in control and FSHD cells

Grant 7
Molecular Genetic Basis of Facio Scapulo Humeral Dystrophy

Grant 8
Dysregulated Pathways in FSHD: Recreating the FSHD Phenotype

Grant 10
Study of DUX4 and DUX4c gene expression in human embryonic stem cells

Grant 11
The development of an anti­DUX4 therapeutic based on chemical inhibitors of DUX4

Grant 12
​Culture and Expansion of DUX4 in Human Embryonic Stem Cells Carrying FSHD

Grant 13
​Bill Moss AO Fellowship for Dr Leslie Caron

Grant 14
​Tissue­-specific silencing of the Planar cell polarity gene FAT1 as a causal mechanism for FSHD

Grant 15
​DUX4 inhibition as a therapeutic strategy for FSHD

Grant 16
​Re­creating the human chromosomal genetic defect responsible for FSHD in a mouse model.

Grant 17
Evaluation of antisense strategies to suppress DUX4 expression in FSHD

Grant 18
Study on the clinical features, expression profiling, and quality of life of infantile onset FSHD

Grant 19
FSHD drug discovery based on chemical inhibitors of DUX4

Grant 20
​Identification of drugs for the normalization of aberrant FSHD candidate gene expression

Grant 21
​Drug­targeting of myoblast fusion as a treatment for FSHD

Grant 22
Increasing SMCHD1 Levels as a Therapy for FSHD1 & FSHD2

Grant 23
Clinical Study of Bone Health in FSHD

Grant 24
​Generation of Drosophila-Based Biomedical Models of FSHD

Grant 25
​Enhancing BMP signaling to treat FSHD

Grant 26
​​Functional study of a novel candidate gene for FSH (LRIF)

Grant 27
Preclinical Studies of Fisetin and VBP15 in Facioscapulohumeral Muscular Dystrophy

Grant 28
Application of novel isoflavones in an FSHD hESC model system

Grant 29
​Training Agreement to Netherlands

Grant 30
HDL based therapy is a potential treatment for FSHD

Grant 31
​AO Transporter

Grant 32
​A multicenter natural history and biomarkers study of infantile onset FSHD

Grant 33
​Facio Therapies Biotech Investment Grant

Grant 34
Targeting DUX4 using gene-silencing oligonucleotides in FSHD models

Grant 35
FSHD Consensus

Grant 37
The next wave of Whole Genome Sequencing-based FSHD diagnostics, and clinical measures of progress

Grant 38
Small molecule inhibitors of DUX4 as FSHD therapeutics

Grant 39
High throughput chemical screens for activators of SMCHD1, as potential therapeutics for FSHD

Grant 40
Living life with FSHD: who is affected and how.

Grant 41
Characterisation of DUX 4 protein – protein interactions in FSHD cell lines and tissue biopsies by cross-linking and mass-spectrometry

Grant 43
Testing novel therapeutic strategies to combat the metabolic disturbances underlying the muscle pathology of FSHD

Grant 44
Physical function outcome measures in paediatric FSHD

Grant 45
Crystal Structure of DUX4 protein domains

Grant 47
Pre-clinical testing for FSHD CRISPR-inhibition therapy

Muscle Wellness

Grant 1
Investigation into the role of FHL1, Calcineurin and NFAT in reducing muscle wasting in FSHD

Grant 9
​Investigation of the role of FHL1 as a novel therapeutic target to reduce muscle wasting and promote muscle regeneration in the frg1 mouse model of FSHD

Grant 36
Effect of creatine monophosphate on strength and muscle mass in children with FSHD

Grant 46
Developing a systemic myostatin-inhibiting gene therapy approach to improve muscle weakness in a new FSHD mouse model

Muscle Technology and Innovation

Grant 48
Muscle-in-a-dish, development of an in vitro platform of human skeletal muscle